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Pediatric Research|September 27, 2022
Pharmacogenetic profiling via genome sequencing in children with medical complexityAmy Pan, Sierra Scodellaro, Tayyaba Khan, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|September 9, 2009
Helicobacter pylori promotes hepatic fibrosis in the animal modelMoon-Jung Goo, Mi-Ran Ki, Hye-Rim Lee, et al.
Clinical Genetics|February 18, 2014
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)S Banka, D Lederer, V Benoit, et al.
Science (New York, N.Y.)|April 16, 2011
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome miceTammy M Holm, Jennifer P Habashi, Jefferson J Doyle, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
American Journal of Human Genetics|March 5, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
Neuron|June 12, 2003
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilizationFumiaki Saito, Steven A Moore, Rita Barresi, et al.
JAMA Neurology|March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A ReviewSarah U Morton, John Christodoulou, Gregory Costain, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
American Journal of Human Genetics|December 22, 2015
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited DisordersDaria Wojtal, Dwi U Kemaladewi, Zeenat Malam, et al.
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